DNA copy number changes in the diagnosis of melanocytic tumors;Molekulargenetische analyse bei der diagnose melanozytärer tumoren

Pathologe

Volumn 28, Issue 6, 2007, Pages 464-473

  Bauer, J ^a,b   Bastian, B C ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

Comparative genomic hybridization; DNA copy number changes; Melanocytic nevi; Melanoma

Indexed keywords

DNA;

CANCER CELL; CELL PROLIFERATION; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENT; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; MELANOCYTIC NEVUS; MELANOMA; ONCOGENE; REVIEW; TUMOR DIAGNOSIS; TUMOR GROWTH; TUMOR SUPPRESSOR GENE;

EID: 35748953445     PISSN: 01728113     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00292-007-0944-4     Document Type: Review

References (46)

1. Ackerman AB, Cerroni L, Kerl H (1994) Pitfalls in histopathologic diagnosis of malignant melanoma. Lea & Febiger, Philadelphia
2. Albertson DG, Ylstra B, Segraves R et al. (2000) Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene. Nat Genet 25: 144-146
3. Balazs M, Adam Z, Treszl A et al. (2001) Chromosomal imbalances in primary and metastatic melanomas revealed by comparative genomic hybridization. Cytometry 46: 222-232
4. Barnhill RL, Argenyi ZB, From L et al. (1999) Atypical Spitz nevi/tumors: lack of consensus for diagnosis, discrimination from melanoma, and prediction of outcome. Hum Pathol 30: 513-520
5. Bastian BC, Kashani-Sabet M, Hamm H et al. (2000) Gene amplifications characterize acral melanoma and permit the detection of occult tumor cells in the surrounding skin. Cancer Res 60: 1968-1973
6. Bastian BC, LeBoit PE, Hamm H et al. (1998) Chromosomal gains and losses in primary cutaneous melanomas detected by comparative genomic hybridization. Cancer Res 58: 2170-2175
7. Bastian BC, LeBoit PE, Pinkel D (2000) Mutations and copy number increase of HRAS in Spitz nevi with distinctive histopathological features. Am J Pathol 157: 967-972
8. Bastian BC, Olshen AB, LeBoit PE, Pinkel D (2003) Classifying melanocytic tumors based on DNA copy number changes. Am J Pathol 163: 1765-1770
9. Bastian BC, Wesselmann U, Pinkel D, LeBoit PE (1999) Molecular cytogenetic analysis of Spitz nevi shows clear differences to melanoma. J Invest Dermatol 113: 1065-1069
10. Bastian BC, Xiong J, Frieden IJ et al. (2002) Genetic changes in neoplasms arising in congenital melanocytic nevi: differences between nodular proliferations and melanomas. Am J Pathol 161: 1163-1169
11. Cheung VG, Nowak N, Jang W et al. (2001) Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature 409: 953-958
12. Clark WH Jr, Elder DE, Guerry D (1990) Dysplastic nevi and malignant melanoma. In: Farmer ER, Hood AF (eds) Pathology of the Skin. McGraw-Hill, New York, pp 729-735
13. Clark WH, Hood AF, Tucker MA, Jampel RM (1998) Atypical melanocytic nevi of the genital type with a discussion of reciprocal parenchymal-stromal interactions in the biology of neoplasia. Hum Pathol 29: S1-S24
14. Cohen Y, Rosenbaum E, Begum S et al. (2004) Exon 15 BRAF mutations are uncommon in melanomas arising in nonsun-exposed sites. Clin Cancer Res 10: 3444-3447
15. Cook MG (1997) Diagnostic discord with melanoma. J Pathol 182: 247-249
16. Corona R, Mele A, Amini M et al. (1996) Interobserver variability on the histopathologic diagnosis of cutaneous melanoma and other pigmented skin lesions. J Clin Oncol 14: 1218-1223
17. Curtin JA, Busam K, Pinkel D, Bastian BC (2006) Somatic activation of KIT in distinct subtypes of melanoma. J Clin Oncol 24: 4340-4346
18. Curtin JA, Fridlyand J, Kageshita T et al. (2005) Distinct sets of genetic alterations in melanoma. N Engl J Med 353: 2135-2147
19. Denoyelle C, Abou-Rjaily G, Bezrookove V et al. (2006) Anti-oncogenic role of the endoplasmic reticulum differentially activated by mutations in the MAPK pathway. Nat Cell Biol 8: 1053-1063
20. Harvell JD, Bastian BC, LeBoit PE (2002) Persistent (recurrent) Spitz nevi: a histopathologic, immunohistochemical, and molecular pathologic study of 22 cases. Am J Surg Pathol 26: 654-661
21. Healy E, Rehman I, Angus B, Rees JL (1995) Loss of heterozygosity in sporadic primary cutaneous melanoma. Genes Chromosomes Cancer 12: 152-156
22. Hoang MP, Prieto VG, Burchette JL, Shea CR (2001) Recurrent melanocytic nevus: a histologic and immunohistochemical evaluation. J Cutan Pathol 28: 400-406
23. Ishkanian AS, Malloff CA, Watson SK et al. (2004) A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 36: 299-303
24. Isshiki K, Elder DE, Guerry D, Linnenbach AJ (1993) Chromosome 10 allelic loss in malignant melanoma. Genes Chromosomes Cancer 8: 178-184
25. Jackson R (1997) Malignant melanoma: a review of 75 malpractice cases. Int J Dermatol 36: 497-498
26. Kakati S, Song SY, Sandberg AA (1977) Chromosomes and causation of human cancer and leukemia. XXII. Karyotypic changes in malignant melanoma. Cancer 40: 1173-1181
27. Kallioniemi A, Kallioniemi OP, Sudar D et al. (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258: 818-821
28. Kempf W, Haeffner AC, Mueller B et al. (1998) Experts and gold standards in dermatopathology: qualitative and quantitative analysis of the self-assessment slide seminar at the 17th colloquium of the International Society of Dermatopathology. Am J Dermatopathol 20: 478-482
29. Maldonado JL, Fridlyand J, Patel H et al. (2003) Determinants of BRAF mutations in primary melanomas. J Natl Cancer Inst 95: 1878-1890
30. Maldonado JL, Timmerman L, Fridlyand J, Bastian BC (2004) Mechanisms of cell-cycle arrest in Spitz nevi with constitutive activation of the MAP-kinase pathway. Am J Pathol 164: 1783-1787
31. Mertens F, Johansson B, Hoglund M, Mitelman F (1997) Chromosomal imbalance maps of malignant solid tumors: a cytogenetic survey of 3185 neoplasms. Cancer Res 57: 2765-2780
32. Millikin D, Meese E, Vogelstein B et al. (1991) Loss of heterozygosity for loci on the long arm of chromosome 6 in human malignant melanoma. Cancer Res 51: 5449-5453
33. Peris K, Keller G, Chimenti S et al. (1995) Microsatellite instability and loss of heterozygosity in melanoma. J Invest Dermatol 105: 625-628
34. Pinkel D, Segraves R, Sudar D et al. (1998) High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20: 207-211
35. Rivers JK (2004) Is there more than one road to melanoma? Lancet 363: 728-730
36. Roaten JB, Partrick DA, Bensard D et al. (2005) Survival in sentinel lymph node-positive pediatric melanoma. J Pediatr Surg 40: 988-992
37. Sasaki Y, Niu C, Makino R et al. (2004) BRAF point mutations in primary melanoma show different prevalences by subtype. J Invest Dermatol 123: 177-183
38. Sauter ER, Yeo UC, Stemm A von et al. (2002) Cyclin D1 is a candidate oncogene in cutaneous melanoma. Cancer Res 62: 3200-3206
39. Takata M, Morita R, Takehara K (2000) Clonal heterogeneity in sporadic melanomas as revealed by loss-of-heterozygosity analysis. Int J Cancer 85: 492-497
40. Thompson FH, Emerson J, Olson S et al. (1995) Cytogenetics of 158 patients with regional or disseminated melanoma. Subset analysis of near-diploid and simple karyotypes. Cancer Genet Cytogenet 83: 93-104
41. Trent JM, Thompson FH, Ludwig C (1984) Evidence for selection of homogeneously staining regions in a human melanoma cell line. Cancer Res 44: 233-237
42. Tronnier M, Alexander M, Neitmann M et al. (2000) Morphologische Veränderungen in melanozytären Nävi durch exogene Faktoren. Hautarzt 51: 561-566
43. Dijk M van, Sprenger S, Rombout P et al. (2003) Distinct chromosomal aberrations in sinonasal mucosal melanoma as detected by comparative genomic hybridization. Genes Chromosomes Cancer 36: 151-158
44. Veenhuizen KC, De Wit PE, Mooi WJ et al. (1997) Quality assessment by expert opinion in melanoma pathology: experience of the pathology panel of the Dutch Melanoma Working Party. J Pathol 182: 266-272
45. Whiteman DC, Watt P, Purdie DM et al. (2003) Melanocytic nevi, solar keratoses, and divergent pathways to cutaneous melanoma. J Natl Cancer Inst 95: 806-812
46. Wiltshire RN, Dennis TR, Sondak VK et al. (2001) Application of molecular cytogenetic techniques in a case study of human cutaneous metastatic melanoma. Cancer Genet Cytogenet 131: 97-103